A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538043



Internal ID15511939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63699874..63727526hg38UCSC Ensembl
Innerchr1:64165545..64193197hg19UCSC Ensembl
Innerchr1:63938133..63965785hg18UCSC Ensembl
Innerchr1:63877566..63905218hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3827653
hg1927653
hg1827653
hg1727653
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461683
Supporting Variants
SamplesNINDS_172
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv538043
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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